NM_001110792.1:c.722C>A

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HGVS Expressions

  • NG_007107.2:g.110986C>A
  • NM_001110792.1:c.722C>A
  • NP_001104262.1:p.Ser241Ter
  • NC_000023.11:g.154031142G>T

Associated Genes

Methyl-CpG Binding Protein 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

61749739

Clinvar

143658

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
312750.15United Arab Emirates1Likely PathogenicRett SyndromeSaleh et al. 2021
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Contributors

  • Pratibha Nair: 31.01.2022

Edit History

  • Pratibha Nair: 31.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.